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- Title
Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population.
- Authors
Kim, J. H.; Shin, H. D.; Park, B. L.; Cho, Y. M.; Kim, S. Y.; Lee, H. K.; Park, K. S.
- Abstract
Aims/hypothesis: Peroxisome proliferator-activated receptor gamma coactivator 1 alpha (PGC-1 α) is a transcriptional coactivator implicated in insulin release by beta cells and in insulin resistance. Therefore, genetic variation of PPARGC1A could be implicated in the onset of type 2 diabetes. In this study, we examined whether the PPARGC1A gene locus is associated with type 2 diabetes mellitus. We also investigated its association with clinical and metabolic parameters in healthy and diabetic subjects. Methods: After sequencing exons and their boundaries of the PPARGC1A gene, including the promoter region (∼1.5 kb), we genotyped eight common single nucleotide polymorphisms (SNPs) in an association study comprising 762 unrelated patients with type 2 diabetes and 303 non-diabetic control patients. We divided the patients with type 2 diabetes into quartiles or three groups according to age at diagnosis of type 2 diabetes (early-onset: <40 years of age, average-onset: 40S≤<60 years, and late-onset: ≥60 years). Results: There was no strong association between SNPs or haplotypes of PPARGC1A and type 2 diabetes. However, the SNPs of g.—1789G>A and g.—1437C>T were associated with the age at diagnosis of type 2 diabetes (p=0.042 and p=0.032, respectively). In addition, the promoter SNPs of g.—1789G>A and g.—1437C>T and the haplotypes ht2 (—1789A and —1437T) were significantly associated with early-onset type 2 diabetes (p=0.002, p=0.001 and p=0.001, respectively). Conclusions/interpretation: Our results suggest that PPARGC1A promoter polymorphisms are associated with age at diagnosis of type 2 diabetes and early-onset type 2 diabetes in the Korean population.
- Subjects
PEROXISOMES; MICROBODIES; TYPE 2 diabetes; DIABETES complications; HYPOGLYCEMIC agents; PANCREATIC beta cells
- Publication
Diabetologia, 2005, Vol 48, Issue 7, p1323
- ISSN
0012-186X
- Publication type
Article
- DOI
10.1007/s00125-005-1793-4